نتایج جستجو برای: ethylmalonic aciduria
تعداد نتایج: 1386 فیلتر نتایج به سال:
Dynamic Source Routing protocol (DSR) has been accepted itself as one of the distinguished and dominant routing protocols for MANETs. From various performance analysis and results, it is shown that DSR has been an outstanding routing protocol that outperforms consistently than any other routing protocols. But it could not pervade the same place when the performance was considered in term of ene...
In humans, deficiencies in coenzyme B12-dependent methylmalonyl-CoA mutase (MCM) lead to methylmalonyl aciduria, a rare disease that is often fatal in newborns. Such deficiencies can result from inborn errors in the MCM structural gene or from mutations that impair the assimilation of dietary cobalamins into coenzyme B12 (Ado-B12), the required cofactor for MCM. ATP:cob(I)alamin adenosyltransfe...
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap. Biochemical hallmarks of this disease are elevated levels of glutarate and 3-hydroxyglutarate in blood and urine. The neuropathology of this disease is still poorly understood, as low...
Jamaican vomiting sickness is characterized by sudden-onset acute vomiting and diarrhoea with profound hypoglycaemia, leading t o coma and death. Pathological changes observed include fatty infiltration of the viscera, and similarities with Reye’s syndrome (encephalopathy and fatty degeneration of the viscera) have been noted (Lowry, 1975). Recently, twin siblings presented in Harrow with a n u...
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